Variant report

Variant	rs7185575
Chromosome Location	chr16:71672569-71672570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71659410..71661449-chr16:71672498..71674231,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARVELD3-5	chr16:71671738-71673236	NONHSAT143497

Variant related genes	Relation type
ENSG00000260593	Chromatin interaction
ENSG00000140832	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10500560	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1056303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11640830	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11648483	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11670	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12445161	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12446005	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12448022	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12919271	0.80[EUR][1000 genomes]
rs12924631	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1345868	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34028112	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34358623	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34680964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34731378	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61733127	0.93[ASN][1000 genomes]
rs61753635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71403864	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7190257	0.90[ASN][1000 genomes]
rs7192860	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7205340	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8046629	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8049163	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8053623	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71661000-71674200	Weak transcription	Gastric	stomach
2	chr16:71661800-71682000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:71662000-71674200	Weak transcription	Lung	lung
4	chr16:71662600-71682000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:71662800-71673600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:71663200-71673800	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:71663200-71676800	Weak transcription	Fetal Kidney	kidney
8	chr16:71663400-71674200	Weak transcription	Adipose Nuclei	Adipose
9	chr16:71663400-71674200	Weak transcription	Aorta	Aorta
10	chr16:71663400-71674400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:71663400-71674400	Weak transcription	Esophagus	oesophagus
12	chr16:71663400-71678400	Weak transcription	Fetal Lung	lung
13	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
14	chr16:71663800-71673800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:71663800-71674200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:71663800-71680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:71663800-71681400	Weak transcription	Left Ventricle	heart
18	chr16:71663800-71681400	Weak transcription	HepG2	liver
19	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:71665200-71673000	Strong transcription	Fetal Intestine Large	intestine
21	chr16:71665200-71673800	Weak transcription	Liver	Liver
22	chr16:71665200-71674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:71665200-71682800	Weak transcription	HMEC	breast
24	chr16:71665400-71674200	Weak transcription	Brain Germinal Matrix	brain
25	chr16:71666200-71674200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:71668000-71673800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr16:71668000-71674200	Weak transcription	Fetal Brain Female	brain
28	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:71668200-71681800	Weak transcription	Spleen	Spleen
30	chr16:71668600-71673000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:71668600-71674000	Weak transcription	NHEK	skin
32	chr16:71668600-71674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:71668600-71674400	Weak transcription	Colonic Mucosa	Colon
34	chr16:71668600-71678200	Weak transcription	Primary T cells from cord blood	blood
35	chr16:71669000-71673800	Weak transcription	Fetal Stomach	stomach
36	chr16:71669000-71674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:71669000-71674200	Weak transcription	Pancreas	Pancrea
38	chr16:71669600-71681400	Weak transcription	Brain Angular Gyrus	brain
39	chr16:71669600-71681600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:71669800-71674200	Weak transcription	Brain Anterior Caudate	brain
41	chr16:71670000-71674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:71670000-71678000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:71670000-71678200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr16:71670000-71679200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr16:71670000-71682600	Weak transcription	Brain Substantia Nigra	brain
46	chr16:71670200-71682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:71670400-71681400	Weak transcription	Fetal Muscle Leg	muscle
48	chr16:71670600-71678400	Strong transcription	Fetal Intestine Small	intestine
49	chr16:71670800-71672800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr16:71670800-71672800	Strong transcription	Rectal Mucosa Donor 31	rectum

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